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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-65966713-CCAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=65966713&ref=CCAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 65966713,
"ref": "CCAA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000433211.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2296_2298delTTG",
"hgvs_p": "p.Leu766del",
"transcript": "NM_013266.4",
"protein_id": "NP_037398.2",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 895,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": "ENST00000433211.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2296_2298delTTG",
"hgvs_p": "p.Leu766del",
"transcript": "ENST00000433211.7",
"protein_id": "ENSP00000389714.1",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 895,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": "NM_013266.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2296_2298delTTG",
"hgvs_p": "p.Leu766del",
"transcript": "NM_001127384.3",
"protein_id": "NP_001120856.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 895,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 10620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2296_2298delTTG",
"hgvs_p": "p.Leu766del",
"transcript": "ENST00000682758.1",
"protein_id": "ENSP00000508047.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 895,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 10763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2296_2298delTTG",
"hgvs_p": "p.Leu766del",
"transcript": "ENST00000684154.1",
"protein_id": "ENSP00000508371.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 895,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 10766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2095_2097delTTG",
"hgvs_p": "p.Leu699del",
"transcript": "ENST00000682945.1",
"protein_id": "ENSP00000506843.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 828,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2521_2523delTTG",
"hgvs_p": "p.Leu841del",
"transcript": "XM_017016152.2",
"protein_id": "XP_016871641.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 970,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 10962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2365_2367delTTG",
"hgvs_p": "p.Leu789del",
"transcript": "XM_017016151.2",
"protein_id": "XP_016871640.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 918,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 10689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.2332_2334delTTG",
"hgvs_p": "p.Leu778del",
"transcript": "XM_047425124.1",
"protein_id": "XP_047281080.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 907,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 10738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1513_1515delTTG",
"hgvs_p": "p.Leu505del",
"transcript": "XM_017016155.3",
"protein_id": "XP_016871644.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 634,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 10075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1513_1515delTTG",
"hgvs_p": "p.Leu505del",
"transcript": "XM_017016156.2",
"protein_id": "XP_016871645.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 634,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 10012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1201_1203delTTG",
"hgvs_p": "p.Leu401del",
"transcript": "XM_017016157.3",
"protein_id": "XP_016871646.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 530,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.472_474delTTG",
"hgvs_p": null,
"transcript": "ENST00000373735.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*1835_*1837delTTG",
"hgvs_p": null,
"transcript": "ENST00000683624.1",
"protein_id": "ENSP00000507406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*1820_*1822delTTG",
"hgvs_p": null,
"transcript": "ENST00000683963.1",
"protein_id": "ENSP00000507029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*1835_*1837delTTG",
"hgvs_p": null,
"transcript": "ENST00000683624.1",
"protein_id": "ENSP00000507406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*1820_*1822delTTG",
"hgvs_p": null,
"transcript": "ENST00000683963.1",
"protein_id": "ENSP00000507029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"dbsnp": "rs587777135",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.512,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000433211.7",
"gene_symbol": "CTNNA3",
"hgnc_id": 2511,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2296_2298delTTG",
"hgvs_p": "p.Leu766del"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular dysplasia 13",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 13|Arrhythmogenic right ventricular cardiomyopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}